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《Journal of Chinese Practical Diagnosis and Therapy》 2012-06
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Quantitative analysis of fetal sex-determining region of Y-chromosome gene by cell-free fetal nucleic acids in maternal plasma

HOU Qiao-fang,ZHANG Wei-hua,WU Dong,LIAO Shi-xiu (Institute of Medical Genetics,Henan Provincial People's Hospital,Zhengzhou 450003,China)  
Objective To explore the clinical application value of cell-free fetal nucleic acids to non-invasive prenatal diagnosis.Methods Real-time quantitative PCR and Taqman probes were used for amplification and quantitative analysis of sex-determining region of Y-chromosome(SRY) gene in maternal serum in 87 pregnancy women,including 61 mid-trimester(16~24 weeks) and 26 first trimester(11~14 weeks) pregnancy women.Results All the samples were amplified specifically and sensitively after pregnancy for over 13 weeks,with the specificity and sensitivity of 100% respectively.In the mid-trimester pregnancy group the average concentration of male fetal SRY gene was 155.46 copies/mL plasma and the measured concentration range was from 43.6 to 326.8 copies/mL plasma.In the first-trimester pregnancy group the average concentration of SRY gene was 26.42 copies/mL plasma,and the measured concentration range was from 14.3 to 73.3 copies/mL plasma.Conclusion Real-time PCR is a steady method to diagnose fetal sex in the first-trimester and mid-trimester pregnancy women by fetal cell free DNA.The program can be used as an effectively supplementary method in the prenatal diagnosis of sex-linked genetic disease.
【Fund】: 国家自然科学基金(81170581)
【CateGory Index】: R714.5
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